A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2128389



Internal ID17386420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3567351..3579402hg38UCSC Ensembl
Innerchr19:3567349..3579400hg19UCSC Ensembl
Innerchr19:3518349..3530400hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812052
hg1912052
hg1812052
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961165
Supporting Variants
SamplesHGDP00456
Known GenesHMG20B
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2128389
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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